Integrating provision of specialist lipid services with cascade testing for familial hypercholesterolaemia

To highlight the unmet need for identifying individuals with familial hypercholesterolaemia and exploring the implications that this will have for local and national healthcare services.

A pathway utilising DNA testing for the diagnosis of familial hypercholesterolaemia, and subsequent cascade testing has been developed in Wales.

Undiagnosed familial hypercholesterolaemia carries a high risk of cardiovascular disease, which is easily preventable with pharmacotherapy, if individuals are appropriately diagnosed, and affected family members identified. The use of DNA testing is cost-effective and allows for efficient cascade testing. This has implications for local services and highlights unmet educational and clinical requirements in clinical lipidology.